Article
[Two sisters with dysferlinopathy manifesting different clinical phenotypes].
Rinsho shinkeigaku = Clinical neurology - 1 Apr 2003
Chiba Yoichi, Shinde Akiyo, Kohara Nobuo, Akiguchi Ichiro, Nakano Satoshi, Hayashi Yukiko K, Shibasaki Hiroshi
Abstract excerpt
We report two sisters with dysferlinopathy who manifested different clinical phenotypes. A 22-year-old female (patient 1) noticed of difficulty in running at the age of 13 years, and since then weakness of the lower extremities has progressed slowly. She had typical features of Miyoshi myopathy (MM); i.e., young adult onset, dominant involvement of calf muscles and markedly elevated serum creatine kinase (CK)....
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